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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=922",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=920",
"results": [
{
"created": "2022-03-23T08:14:55.902015+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SZT2 as ready",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:14:55.891575+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:14:42.006855+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:14:22.818263+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to ",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:14:04.865945+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to ",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:13:35.492602+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:13:06.557325+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:13:01.444474+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:11:51.591080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SZT2 as ready",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:11:51.581625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: szt2 has been classified as Green List (High Evidence).",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:11:42.911241+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:11:19.261589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:10:58.857070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SZT2 were set to ",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:10:39.499730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:10:21.433832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:07:52.489418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD6 as ready",
"entity_name": "C2CD6",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:07:52.477769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C2CD6",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:07:43.066719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C2CD6 as Amber List (moderate evidence)",
"entity_name": "C2CD6",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:07:43.057379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C2CD6",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:07:23.374838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2CD6 was added\ngene: C2CD6 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C2CD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2CD6 were set to 34919125; 34998468; 31985809\nPhenotypes for gene: C2CD6 were set to Spermatogenic failure 68 , MIM#\t619805\nReview for gene: C2CD6 was set to AMBER\nAdded comment: Single individual and two mouse models. \nSources: Expert list",
"entity_name": "C2CD6",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:03:09.230846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC62 as ready",
"entity_name": "CCDC62",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:03:09.221270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc62 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC62",
"entity_type": "gene"
},
{
"created": "2022-03-23T08:02:59.253509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC62 was added\ngene: CCDC62 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CCDC62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC62 were set to 31985809; 28339613\nPhenotypes for gene: CCDC62 were set to Spermatogenic failure 67, MIM# \t619803\nReview for gene: CCDC62 was set to RED\nAdded comment: Single individual reported, supportive mouse model. \nSources: Expert list",
"entity_name": "CCDC62",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:13:26.243630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11768",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK2",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:08:06.263047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11768",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:07:58.766899+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1492",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFV2 was added\ngene: NDUFV2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFV2 were set to 33811136; 34405929; 12754703; 26008862; 30770271; 19167255\nPhenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229\nReview for gene: NDUFV2 was set to AMBER\nAdded comment: 2 siblings diagnosed with seizures age 3 and 9 months. Seizures not reported in other cases.\r\n\r\n--\r\n\r\nPMID 33811136 Liu et al 2021 - describe 4 individuals from 2 unrelated families with progressive cavitating leukoencephalopathy, recurring episodes of acute/subacute developmental regression in the first years\r\nof life, followed by gradual remissions and prolonged periods of stability. Variant specific supportive functional evidence provided. MRI brain features - cystic changes in cerebral white matter, with corpus callosum involvement reported in 2 siblings.\r\n\r\nPMID 34405929 Kishita et al 2021 - report two unrelated individuals with biallelic variants\r\n\r\nPMID 12754703 Benit et al 2003 - report homozygous NDUFV2 4-bp deletion in intron 2 (IVS2+5_+8delGTAA) of the associated with early onset hypertrophic cardiomyopathy with trunk hypotonia in three affected sibs of a consanguineous family\r\n\r\nPMID 26008862 Cameron et al 2015 report 5 affected individuals from 2 unrelated families\r\n- Family 1 - intronic mutation (c.IVS2 þ 1delGTAA) + (c.669_670insG, p.Ser224Valfs*3) (hypertrophic cardiomyopathy, brain atrophy)\r\n- Family 2 - homozygous intronic c.IVS2 þ 1delGTAA mutation (proband - seizures started at 2-3 months of age. Regression with progressive spasticity, nystagmus, optic atrophy and microcephaly was noted at 10 months of age. Repeat CT scans showed progressive caudate and putaminal cavitation, brain atrophy. Sibling - FTT, progressive microcephaly, spasticity, cerebral atrophy, still alive at 32 years. Affected male sibling - seizures age 9 months.\r\n\r\nPMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy\r\n\r\nPMID 19167255 Pagniez-Mammeri et al 2009 - limited clinical information, x1 individual homozygous for splice site variant \nSources: Literature",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:07:11.642730+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.410",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:05:32.408848+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.446",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-23T07:04:38.491290+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.746",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271, 33811136, 34405929; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:20:28.587427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNRD2 as ready",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:20:28.570072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnrd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:20:07.674559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNRD2 were changed from to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:19:27.746835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNRD2 were set to ",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:18:59.746998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TXNRD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:18:35.456371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNRD2 as Amber List (moderate evidence)",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:18:35.445323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnrd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:18:15.125581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.; to: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.\r\n\r\nEvidence for association with DCM is limited, considering pop frequency of variants reported.",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:17:41.429372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34258490; Phenotypes: Glucocorticoid deficiency 5 (GCCD5), MIM#617825, MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:13:52.959394+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:13:52.949733+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:13:50.345741+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4; #MIM:610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:13:21.290819+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:12:49.844247+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:12:23.164972+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:11:27.658369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY10 as ready",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:11:27.647942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:11:15.935137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY10 were changed from to Hypercalciuria, absorptive, susceptibility to MIM#143870; asthenozoospermia with absorptive hypercalciuria",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:10:52.402339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:09:48.472627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:09:48.456352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:09:40.346534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency , MIM#606003",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:09:00.420358+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:09:00.405504+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:08:52.206028+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:08:23.039336+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TALDO1 were set to ",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:08:05.298213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TALDO1 were set to ",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:07:47.851226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:07:34.183814+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:06:55.901754+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transaldolase deficiency, MIM# 606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:06:16.373372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9Y as ready",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:06:16.363508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9y has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:06:03.788479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9Y were changed from to Spermatogenic failure, Y-linked, 2, MIM#415000",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:05:43.681996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9Y were set to ",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:05:21.204127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9Y was changed from Unknown to Other",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:04:58.610043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP9Y as Amber List (moderate evidence)",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:04:58.600077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9y has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:04:39.453093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: USP9Y.",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:03:17.760426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS10 were set to ",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:02:56.994976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects\r\nSources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.\r\n\r\nMultiple families reported.\r\n\r\nSources: Expert list",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:02:42.831540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS10: Changed publications: 15368195, 18567016, 19836009",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:01:57.566522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mild intellectual disability is described in around 10% of affected individuals. \nSources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects\r\nSources: Expert list",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T20:00:30.567213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:59:42.098391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:59:42.087378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:59:32.524198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:59:11.271797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARS2 were set to ",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:58:31.777854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:58:09.035670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751860; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:53:43.292371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:53:23.532766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Amber List (moderate evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:53:23.521305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:52:59.024093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:11:01.369098+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH2A as ready",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:11:01.347007+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush2a has been classified as Green List (High Evidence).",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:10:58.340474+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH2A were set to ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:10:10.235899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH2A as ready",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:10:10.225569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush2a has been classified as Green List (High Evidence).",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:10:02.060717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901; Retinitis pigmentosa 39, MIM#613809",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:09:42.167596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH2A were set to ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:08:58.005825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:08:22.273521+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS6 as ready",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:08:22.262531+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:08:19.254317+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:07:45.980023+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS6 were set to ",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:07:16.377502+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:06:45.965811+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS6 as Amber List (moderate evidence)",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:06:45.956489+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:06:03.710959+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LOR were set to 8673107; 9326398; 9326323; 25234742; 25142840",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:05:05.590083+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS6 as ready",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:05:05.571061+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
}
]
}